论文信息 - Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss - 字舞流文

Characterization of a novel variant in the HR1 domain of MFN2 in a patient with ataxia, optic atrophy and sensorineural hearing loss

C. Besta | J. Poulton | Govinda Sharma | D. Martino | Kristina Martens | G. Pfeffer | A. Nasca | R. Sabouny | T. Shutt | M. Joel | A. D. de Koning | M. M. Joel | Mashiat Zaman | A. J. D. Koning | Istituto-Nazionale Neurologico | Rasha Saubouny | Nynke van Polanen | Daniele Ghezzi Fondazione Irccs | Italy Milan | A. J. de Koning